Complex chromosomal rearrangements (CCRs) are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis to the Genetics unit of Royan Reproductive Biomedicine Research Center.
View Article and Find Full Text PDFObjective: To report on 14 infertile patients who had a de novo form of the same isodicentric (idic)(Yq) karyotype with variable degrees of mosaicism.
Design: Retrospective study and review of the literature.
Setting: Medical genetics laboratory in a research institute for reproductive biomedicine.
Rev Fac Cien Med Univ Nac Cordoba
July 2014
The chronic metabolic acidosis induces increase in the urinary ammonium production (NH4+u) like equalizer, reflected in major or measured minor, if the process is chronic or acute. The objective of the present work was to study the capacity of urinary acidification in patients with Failure Renal Chronic (FRC), stage II and III measuring NH4+u and to compare results with GAP urinary (GAPu), GAP urinary modified (GAPu mod), GAP Osmolal (GAPosm) and GAP Osmolal modified (GAPosm modif.) like indirect indices of amoniuria.
View Article and Find Full Text PDFChronic interstitial cystitis and ureteral stenosis has occasionally been reported in systemic lupus erythematosus, mostly associated with gastrointestinal symptoms. We report a case of obstructive uropathy associated to chronic interstitial cystitis as the only manifestation of lupus flare in a patient with SLE and anti-phospholipid syndrome (APS) who had been in remission for many years. The development of chronic interstitial cystitis in patients with SLE and APS has not been previously reported.
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